A case of pseudoisodicentric chromosome 18q detected at prenatal diagnosis

Sun Young Cho, Gayoung Lim, So Young Kim, Min Jin Kim, Kyung A. Lee, Jong Rak Choi, Hee Joo Lee, Jin Tae Suh, Tae Sung Park, Eui Jung

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe a case of pseudoisodicentric chromosome 18q without mosaicism, which was confirmed from fetal cells in the amniotic fluid used for prenatal diagnosis of multiple congenital anomalies. A 23-yr-old pregnant woman was suspected of having a fetal anomaly at 18+3 weeks gestation. In sonography, the fetus showed multiple anomalies: bilateral overt ventriculomegaly in the brain, ventricular septal defect and valve anomaly in the heart, bilateral club foot, polydactyly, meningocele, and a single umbilical artery. The pregnancy was terminated and a conventional G-banded chromosome study was performed using amniotic fluid. Twenty metaphase cells among the cultured amniocytes showed a 46,XX,psu idic(18)(q22). Consequently, the fetus had partial trisomy (18pter q22) and partial monosomy (18q22 →qter). Both parents were confirmed to have a normal karyotype.

Original languageEnglish
Pages (from-to)440-443
Number of pages4
JournalKorean Journal of Laboratory Medicine
Issue number4
Publication statusPublished - 2010 Aug

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical


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